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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Wilms tumor, Aniridia, Genitourinary anomalies, mental Retardation syndrome
  • WAGR Complex
  • Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
  • Chromosome 11p deletion syndrome
  • 11p deletion syndrome
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WAGR syndrome
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WAGR syndrome is a genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or mental retardation.[1] WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary anomalies (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), mental Retardation syndrome.[1][2] A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome.[1] The syndrome is due to a microdeletion in the 11p13 region of chromosome 11.[2] In most cases, this genetic change occurs spontaneously during early embryonic development (de novo) for unknown reasons (sporadic). Only rarely is the mutation inherited.[1]


References
  1. Trout K. WAGR Syndrome. National Organization for Rare Disorders (NORD). 2007 Available at: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=WAGR%20Syndrome. Accessed March 11, 2009.
  2. WAGR syndrome. Orphanet. March 2006 Available at: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=893. Accessed March 11, 2009.
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For more information about WAGR syndrome click on the boxes below:
 More Detailed Information (Found 9 resources)
 General | Management Guidelines | Insurance Issues
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates.

  • General

    • Genetics Home Reference (GHR) contains information on WAGR syndrome. Click on the link to go to GHR and review the information.
    • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
    • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss WAGR syndrome. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss WAGR syndrome. Click on the link to view a sample search on this topic.
  • Management Guidelines

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles on this topic from the perspective of Aniridia and Wilms tumor. These articles describe the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Insurance Issues

    • The Social Security Administration (SSA) created the Compassionate Allowance Initiative to speed up the processing of disability claims for applicants with certain conditions. Click on the link to view the Compassionate Allowance information for kidney cancer, a cancer associated with this condition. More information about applying for Social Security disability benefits is available online.
      Link: https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022205
 Organizations (Found 7 resources)
 Disease-Specific Organizations | Umbrella Organizations | Social Networking Websites
Groups providing a wide range of services, supportive resources, and information.

  • Disease-Specific Organizations

  • Umbrella Organizations

  • Social Networking Websites

    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
 Services (Found 3 resources)
 Testing | Parent Resources
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories.

    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 Scientific Conferences (Found 5 resources)
 Upcoming Conferences | Past Conferences
Resources where you can find information on completed and upcoming scientific conferences and programs.

  • Upcoming Conferences

    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: Direct instruction of trainees and new investigators in rare disease research methodology; Development of a reusable curriculum/syllabus on rare disease research methodology; Stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases
  • Past Conferences

    • Workshop on Rare Syndromic Body Fat Disorders: What Can They Teach Us?, March 1, 2012 - March 2, 2012
      Location: Lister Hill Auditorium, NIH Campus, Bethesda, MD
      Description: We hope to get a good estimate of the individuals with obesity and lipodystrophic syndromes where the genetic causes are unknown, and to learn what hurdles are commonly encountered when trying to find causative mutations. Through presentations and discussions we hope to encourage further investigation of cells from families with rare single gene or syndromic obesity disorders, to learn about unknown biological pathways regulating energy balance, and to encourage further human research in order to shed light on why obesity occurs in some individuals with the “same” syndrome but not others.
    • Overcoming Barriers to International Clinical Trials for Rare Cancers , December 10, 2010
      Description: The goals of this conference were to introduce key institutional players to the topic of international clinical trials in rare cancers and to establish an ongoing dialogue. Participants left the meeting with a set of specific priorities that need to be enacted to promote these trials. The meeting promoted consensus on the way that resources are prioritized to address rare cancers. Participants were asked to convey the content of the meeting to their constituencies and to follow up with pilot concepts.
    • 2010 Genetic Alliance Annual Conference , July 15, 2010 - July 18, 2010
      Location: Bethesda North Marriott Hotel and Conference Center, Bethesda, Maryland
      Description: The Genetic Alliance Annual Conference is consistently inspirational and enables partnership among all stakeholders: advocates and community leaders, health and industry professionals, policymakers and academicians.
    • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
      Location: Palais Rouge Convention Center, Palermo, Buenos Aires
      Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
 Clinical Trials & Research (Found 3 resources)
 
Resources where you may find research studies and clinical trials.

    • ClinicalTrials.gov lists trials that are studying or have studied WAGR syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
  • Patient Registry

    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.

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